P01-022 – MEFV gene mutations registered to infevers

Introduction

Familial Mediterranean Fever (FMF) is the most common hereditary autoinflammatory disorder characterized by fever and abdominal pain. 16p13.3 chromosomally located MEFV gene has been responsible for disease outcome and its protein product, Pyrin, is the key regulator protein of inflammasome complex which leads to IL-1B production and inflammation.

Objectives

Methods

Bidirectional DNA Sequencing analysis of MEFV gene in all coding exons and exon-intron boundaries was performed in Turkish patients clinically pre-diagnosed as FMF consulted in Ege University School of Medicine between years 2009-2013 (n=8000) and in healthy control group individuals (n=250). For patients who were mutation negative in screened exons, exons 1, 4, 6, 7, 8, and 9 were also analysed.

Search for S Nalbantoglu in:

Search for D Tigli in:

Search for I Demirel in:

Search for M Atan in:

Corresponding author

Correspondence to
A Berdeli.

Rights and permissions

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.